29134[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 58432	GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3	ASTILCS, C8orf90 +30 more	Copy number gain	See cases	GUncertain significance
Select item 726082	NM_001352890.3(DENND3):c.349G>A (p.Val117Met)	DENND3 (V117M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3081583	NM_001352890.3(DENND3):c.536G>A (p.Arg179Gln)	DENND3 (G178R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715620	NM_001352890.3(DENND3):c.636T>A (p.Leu212=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2533530	NM_001352890.3(DENND3):c.656T>C (p.Phe219Ser)	DENND3 (F152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783536	NM_014957.5(DENND3):c.535-10G>A	DENND3	Single nucleotide variant	not provided	GBenign
Select item 2220509	NM_001352890.3(DENND3):c.875C>T (p.Thr292Met)	DENND3 (T225M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081584	NM_001352890.3(DENND3):c.884G>A (p.Arg295Gln)	DENND3 (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552080	NM_001352890.3(DENND3):c.928A>G (p.Thr310Ala)	DENND3 (T310A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 711020	NM_001352890.3(DENND3):c.957G>A (p.Pro319=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2250749	NM_001352890.3(DENND3):c.1025C>T (p.Thr342Met)	DENND3 (T275M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658870	NM_001352890.3(DENND3):c.1050C>T (p.Leu350=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2230931	NM_001352890.3(DENND3):c.1081G>A (p.Asp361Asn)	DENND3 (D361N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312276	NM_001352890.3(DENND3):c.1147G>T (p.Val383Leu)	DENND3 (V316L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081585	NM_001352890.3(DENND3):c.1160A>C (p.Asp387Ala)	DENND3 (D387A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610394	NM_001352890.3(DENND3):c.1181A>T (p.Gln394Leu)	DENND3 (Q327L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342016	NM_001352890.3(DENND3):c.1184C>T (p.Thr395Met)	DENND3 (T395M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530483	NM_001352890.3(DENND3):c.1259T>A (p.Leu420Gln)	DENND3 (L353Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658871	NM_001352890.3(DENND3):c.1263G>A (p.Lys421=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715621	NM_001352890.3(DENND3):c.1331A>G (p.Gln444Arg)	DENND3 (Q377R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 691405	NM_001352890.3(DENND3):c.1350C>T (p.Phe450=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 2518320	NM_001352890.3(DENND3):c.1423C>T (p.Pro475Ser)	DENND3 (P408S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712479	NM_001352890.3(DENND3):c.1487C>T (p.Ala496Val)	DENND3 (A429V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2293526	NM_001352890.3(DENND3):c.1490G>T (p.Arg497Leu)	DENND3 (R430L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213048	NM_001352890.3(DENND3):c.1541C>T (p.Ser514Leu)	DENND3 (S447L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712480	NM_014957.5(DENND3):c.1353-9G>T	DENND3	Single nucleotide variant	not provided	GBenign
Select item 741122	NM_001352890.3(DENND3):c.1586C>T (p.Pro529Leu)	DENND3 (P462L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3081569	NM_001352890.3(DENND3):c.1623C>A (p.His541Gln)	DENND3 (H474Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081570	NM_001352890.3(DENND3):c.1628A>G (p.His543Arg)	DENND3 (H476R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507751	NM_001352890.3(DENND3):c.1642C>T (p.Arg548Cys)	DENND3 (R481C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241255	NM_001352890.3(DENND3):c.1675A>G (p.Ile559Val)	DENND3 (I492V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203819	NM_001352890.3(DENND3):c.1714C>T (p.Arg572Trp)	DENND3 (R572W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400001	NM_001352890.3(DENND3):c.1715G>A (p.Arg572Gln)	DENND3 (R572Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511532	NM_001352890.3(DENND3):c.1721C>T (p.Thr574Met)	DENND3 (T507M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 736289	NM_001352890.3(DENND3):c.1728C>T (p.Thr576=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3081571	NM_001352890.3(DENND3):c.1735T>C (p.Cys579Arg)	DENND3 (C579R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081572	NM_001352890.3(DENND3):c.1750G>A (p.Ala584Thr)	DENND3 (A517T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254063	NM_001352890.3(DENND3):c.1871C>A (p.Ala624Asp)	DENND3 (A557D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263989	NM_001352890.3(DENND3):c.1875G>T (p.Met625Ile)	DENND3 (M558I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206714	NM_001352890.3(DENND3):c.1913G>A (p.Arg638His)	DENND3 (R638H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792112	NM_001352890.3(DENND3):c.1914C>G (p.Arg638=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2404243	NM_001352890.3(DENND3):c.1920G>C (p.Leu640Phe)	DENND3 (L573F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2533018	NM_001352890.3(DENND3):c.2002A>G (p.Ile668Val)	DENND3 (I601V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589360	NM_001352890.3(DENND3):c.2036C>T (p.Thr679Met)	DENND3 (T679M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742233	NM_001352890.3(DENND3):c.2081C>T (p.Ala694Val)	DENND3 (A627V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2336223	NM_001352890.3(DENND3):c.2118C>G (p.Asp706Glu)	DENND3 (D706E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272412	NM_001352890.3(DENND3):c.2149C>G (p.His717Asp)	DENND3 (H717D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375278	NM_001352890.3(DENND3):c.2160del (p.Lys720fs)	DENND3 (K720fs +1 more)	Deletion (frameshift variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 790842	NM_001352890.3(DENND3):c.2175G>A (p.Lys725=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2376941	NM_001352890.3(DENND3):c.2206C>T (p.Arg736Trp)	DENND3 (R669W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404363	NM_001352890.3(DENND3):c.2272G>A (p.Val758Ile)	DENND3 (V758I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081574	NM_001352890.3(DENND3):c.2316C>G (p.Phe772Leu)	DENND3 (F705L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081575	NM_001352890.3(DENND3):c.2336C>T (p.Thr779Met)	DENND3 (T712M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336388	NM_001352890.3(DENND3):c.2336C>A (p.Thr779Lys)	DENND3 (T779K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346471	NM_001352890.3(DENND3):c.2347G>A (p.Ala783Thr)	DENND3 (A716T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081576	NM_001352890.3(DENND3):c.2488G>A (p.Glu830Lys)	DENND3 (E763K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081577	NM_001352890.3(DENND3):c.2497C>T (p.Pro833Ser)	DENND3 (P766S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600123	NM_001352890.3(DENND3):c.2569C>T (p.Arg857Trp)	DENND3 (R790W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340802	NM_001352890.3(DENND3):c.2570G>A (p.Arg857Gln)	DENND3 (R790Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081578	NM_001352890.3(DENND3):c.2600C>T (p.Ala867Val)	DENND3 (A867V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3081579	NM_001352890.3(DENND3):c.2676G>C (p.Trp892Cys)	DENND3 (W825C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781162	NM_014957.5(DENND3):c.2506-7G>A	DENND3	Single nucleotide variant	not provided	GBenign
Select item 2326410	NM_001352890.3(DENND3):c.2828G>A (p.Ser943Asn)	DENND3 (S876N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590035	NM_001352890.3(DENND3):c.2833G>A (p.Glu945Lys)	DENND3 (E878K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393664	NM_001352890.3(DENND3):c.2846C>T (p.Thr949Met)	DENND3 (T949M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356442	NM_001352890.3(DENND3):c.2894C>T (p.Ser965Leu)	DENND3 (S965L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392690	NM_001352890.3(DENND3):c.2897C>T (p.Ala966Val)	DENND3 (A966V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541711	NM_001352890.3(DENND3):c.2900G>C (p.Gly967Ala)	DENND3 (G900A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768268	NM_001352890.3(DENND3):c.2925C>T (p.Asp975=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3081580	NM_001352890.3(DENND3):c.3007G>A (p.Glu1003Lys)	DENND3 (E936K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081581	NM_001352890.3(DENND3):c.3139G>A (p.Val1047Ile)	DENND3 (V1047I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493450	NM_001352890.3(DENND3):c.3155A>G (p.Asn1052Ser)	DENND3 (N1052S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399705	NM_001352890.3(DENND3):c.3157G>A (p.Val1053Ile)	DENND3 (V1053I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614916	NM_001352890.3(DENND3):c.3162C>A (p.His1054Gln)	DENND3 (H1054Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614917	NM_001352890.3(DENND3):c.3163A>G (p.Ser1055Gly)	DENND3 (S1055G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081582	NM_001352890.3(DENND3):c.3173G>T (p.Cys1058Phe)	DENND3 (C1058F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525004	NM_001352890.3(DENND3):c.3226G>A (p.Asp1076Asn)	DENND3 (D1009N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460804	NM_001352890.3(DENND3):c.3242C>G (p.Pro1081Arg)	DENND3 (P1081R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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